A56V (p.Ala56Val) variant of KCNA1 (Q09470)
A56V (p.Ala56Val) in KCNA1 (Q09470) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- NCI-TCGA Cosmic COSV6683
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available